Results 211 to 220 of about 51,520 (330)

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Commentary: The Infected Blood Inquiry in the United Kingdom-Let the Dust Settle. [PDF]

Haemophilia
Farrugia A.
europepmc   +1 more source

Agonistic approaches to sexuality: A critical analysis of the conservative mindset. [PDF]

Heliyon, 2023
Airaksinen T.
europepmc   +1 more source

A Sociolinguistic Study of Hyperbole in Iraqi Arabic

, 2009
Zeydan Khalaf Omar, Abed Shahooth Khalaf
openalex   +2 more sources

The role of hyperbole in creating epic images of the Xinjian-Oirat version of Jangar

, 2020
Ц.Б. СЕЛЕЕВА
openalex   +2 more sources

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Hyperbolic geometry in hyperbolically \(k\)-convex regions

, 1991
This paper is the third part of a trilogy dealing with the concept of \(k\)-convexity in various geometries. The first paper deals with \(k\)- convexity in euclidean geometry and the second one with \(k\)-convexity in spherical geometry. The paper deals with \(k\)-convexity in hyperbolic geometry on the unit disk \(D=\{z:| z |
Mejia, Diego, Minda, David
openaire   +2 more sources

Incomplete reporting and spin in acupuncture randomised controlled trials: a cross-sectional meta-epidemiological study. [PDF]

BMJ Evid Based Med
Duan Y, Zhao P, Deng Y, Xu Z, Wu S, Shi L, Jiang F, Liu S, Li X, Tang B, Zhou J, Yu L.   +11 more
europepmc   +1 more source

The language of marketing hyperbole and consumer perception-The case of Glasgow. [PDF]

PLoS One, 2023
MacNiven S, Lennon JJ, Roberts J, MacNiven M.   +3 more
europepmc   +1 more source

Between Thought, Religion, and Contemporaneity: the hyperboles of being and the equivocal communication of the sacred - DOI: 10.5752/P.2175-5841.2012v10n27p879en

, 2012
José Carlos Aguiar de Souza
openalex   +1 more source